J.A. Maassen is Professor of Diabetology and Molecular Biology on behalf of the Diabetesvereniging Nederland (Dutch Diabetes Society). His research covers the pathogenesis of diabetic subtypes and insulin resistance.
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Article
Mitochondrial diabetes: Pathophysiology, clinical presentation, and genetic analysis
Article first published online: 7 MAY 2002
DOI: 10.1002/ajmg.10346
Copyright © 2002 Wiley-Liss, Inc.
Issue
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
American Journal of Medical Genetics
Special Issue: The Genetics of Diabetes Mellitus
Volume 115, Issue 1, pages 66–70, 30 May 2002
Additional Information
How to Cite
Maassen, J. A. (2002), Mitochondrial diabetes: Pathophysiology, clinical presentation, and genetic analysis. American Journal of Medical Genetics, 115: 66–70. doi: 10.1002/ajmg.10346
Publication History
- Issue published online: 22 OCT 2002
- Article first published online: 7 MAY 2002
Funded by
- NWO-Medische Wetenschappen
- Diabetes Fonds Nederland
- EU-COST B17
- Abstract
- Article
- References
- Cited By
Keywords:
- mitochondrion;
- diabetes;
- human;
- insulin secretion;
- mutation;
- beta cell;
- MIDD
Abstract
This study provides a compact overview on the most common form of the maternally inherited diabetes and deafness syndrome (MIDD) that associates with an A–G mutation in mitochondrial DNA at position 3243 in the tRNA(Leu,UUR) gene. The pathobiochemistry and pathophysiology is discussed. The mutation leads predominantly to a reduced insulin secretion by beta cells in response to glucose stimulation, however, without marked involvement of autoimmune processes as seen in type 1 diabetes mellitus. The underlying biochemical mechanism leading to beta cell dysfunction is discussed. Furthermore, the clinical presentation of the disease is summarized as are the methods to detect the A3243G mutation, particular in view of the often low levels of heteroplasm of the A3243G mutation. © 2002 Wiley-Liss, Inc.